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Inborn errors of metabolism

Gene: SLC25A3

Green List (high evidence)

SLC25A3 (solute carrier family 25 member 3)
EnsemblGeneIds (GRCh38): ENSG00000075415
EnsemblGeneIds (GRCh37): ENSG00000075415
OMIM: 600370, Gene2Phenotype
SLC25A3 is in 6 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Three variants reported in 3 families described so far
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial phosphate carrier deficiency 610773

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Review suggests this should be promoted from amber to green.
Created: 10 Feb 2016, 9:47 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
  • Mitochondrial phosphate carrier deficiency 610773
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
OMIM
600370
Clinvar variants
Variants in SLC25A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A3. Source London North GLH was added to SLC25A3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3 Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC25A3 was added gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081 Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773